Project description:Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1(-/-) mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.

| S-EPMC3511479 | biostudies-literature

A Rare Case of Tricuspid Atresia Absent Pulmonary Valve Diagnosed on Fetal Echocardiography.

Project description: Not available

| S-EPMC10772931 | biostudies-literature

Transcatheter Mitral Valve Repair in a Tricuspid Atresia Patient With Potts and Glenn Shunts.

Project description:Our patient was a 50-year-old woman with tricuspid atresia who had undergone palliation with a Potts shunt to the left pulmonary artery as an infant and a classic Glenn shunt to the right pulmonary artery as a young child. Under general anesthesia, she underwent transcatheter edge-to-edge repair of the mitral valve for severe symptomatic mitral regurgitation. (Level of Difficulty: Advanced.).

| S-EPMC9588587 | biostudies-literature

Energetic performance analysis of staged palliative surgery in tricuspid atresia using vector flow mapping.

Project description:BackgroundStaged palliative surgery markedly shifts the balance of volume load on a single ventricle and pulmonary vascular bed. Blalock-Taussig shunt necessitates a single ventricle eject blood to both the systemic and pulmonary circulation. On the contrary, bidirectional cavopulmonary shunt release the single ventricle from pulmonary circulation.Case presentationWe report a case of tricuspid atresia patient who underwent first palliative surgery and second palliative surgery. Volume loading condition was assessed by energetic parameters (energy loss, kinetic energy) intraoperatively using vector flow mapping. These energetic parameters can simply indicate the volume loading condition.ConclusionVector flow mapping was useful tool for monitoring volume loading condition in congenital heart disease surgery.

| S-EPMC5731082 | biostudies-literature

Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.

Project description:BackgroundCardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid maldevelopment, and is one of the most common types of congenital valve defects.MethodsWe recruited a healthy couple with two fetuses aborted due to tricuspid atresia and identified related gene mutations using whole-exome sequencing. We then discussed the pathogenic significance of this mutation by bioinformatic and functional analyses.ResultsPROVEAN, PolyPhen, MutationTaster, and HOPE indicated the mutation could change the protein function and cause disease; Western blotting showed the expression of NFATC1 c.964G>A mutation was lower than the wild type. What's more, dual-luciferase reporter assay showed the transcriptional activity of NFATC1 was impact by mutation and the expression of downstream DEGS1 was influenced.ConclusionTaken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function of NFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia.

| S-EPMC8457709 | biostudies-literature

Complex Catheter-Based Structural Heart Reconstruction in a Patient With Tricuspid Atresia and Bjork Palliative Conduit.

Project description:Björk conduit failure is a common reason for reintervention after a Björk modification of the Fontan procedure. We describe a first performed in human percutaneous procedure for the treatment of a failing Björk circuit in an adult with congenital heart disease and complex anatomic features. (Level of Difficulty: Advanced.).

| S-EPMC8310959 | biostudies-literature

Identification of the atrioventricular conduction axis and its positional relationship with anatomical landmarks of a heart with tricuspid atresia.

Project description: Not available

| S-EPMC9390617 | biostudies-literature

Congenital atresia of the left main coronary artery with left ventricular noncompaction: From infancy to adulthood.

Project description: Not available

| S-EPMC8114642 | biostudies-literature

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Project description:ObjectiveTricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. RASA1, a regulator of cardiovascular development, is involved in this pathway and its haploinsufficiency (due to heterozygous mutations) has been identified as the underlying etiology of the autosomal dominant capillary malformation/arteriovenous malformation (CM/AVM).Materials and methodsIn this prospective study, we used whole exome sequencing (WES) followed by serial bioinformatics filtering steps for two siblings with TA and early onset CM. Their parents were consanguineous which had a history of recurrent abortions. Patients were carefully assessed to exclude extra-cardiac anomalies.ResultsWe identified a homozygous RASA1 germline mutation, c.1583A>G (p.Tyr528Cys) in the family. This mutation lies in the pleckstrin homology (PH) domain of the gene. The parents who were heterozygous for this variant displayed CM.ConclusionThis is the first study reporting an adverse phenotypic outcome of a RASA1 homozygous mutation. Here, we propose that the phenotypic consequence of the homozygous RASA1 p.Tyr528Cys mutation is more serious than the heterozygous type. This could be responsible for the TA pathogenesis in our patients. We strongly suggest that parents with CM/AVM should be investigated for RASA1 heterozygous mutations. Prenatal diagnosis and fetal echocardiography should also be carried out in the event of pregnancy in heterozygous parents.

| S-EPMC6275424 | biostudies-literature

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